Variant report

Variant	rs3735081
Chromosome Location	chr7:150217248-150217249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12216545	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12536876	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1464746	0.83[ASN][1000 genomes]
rs2272092	0.81[JPT][hapmap]
rs4272282	0.83[ASN][1000 genomes]
rs4529370	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6464080	0.87[CHD][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1031309	chr7:150171651-150222230	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3735081	ZNF767	cis	cerebellum	SCAN
rs3735081	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL
rs3735081	ATP6V0E2	cis	parietal	SCAN
rs3735081	KCNH2	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150211000-150219000	Active TSS	Right Atrium	heart
2	chr7:150211400-150217400	Active TSS	Adipose Nuclei	Adipose
3	chr7:150211400-150218600	Active TSS	Duodenum Mucosa	Duodenum
4	chr7:150212200-150218600	Active TSS	Primary B cells from cord blood	blood
5	chr7:150214000-150218600	Weak transcription	Placenta	Placenta
6	chr7:150214200-150218600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:150214600-150218800	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr7:150214800-150218600	Weak transcription	Liver	Liver
9	chr7:150215400-150218000	Weak transcription	Fetal Intestine Small	intestine
10	chr7:150215400-150219200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:150215800-150219200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:150216000-150218400	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:150216000-150219200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
14	chr7:150216800-150217400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
15	chr7:150216800-150217800	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
16	chr7:150216800-150218800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:150216800-150218800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
18	chr7:150216800-150219000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:150216800-150219200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr7:150216800-150219200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:150216800-150219200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
22	chr7:150216800-150219200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
23	chr7:150216800-150219200	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:150216800-150219200	Strong transcription	Fetal Thymus	thymus
25	chr7:150216800-150219400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
26	chr7:150216800-150219400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
27	chr7:150217000-150217400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:150217000-150217400	Active TSS	Pancreas	Pancrea
29	chr7:150217000-150217400	Active TSS	Right Ventricle	heart
30	chr7:150217000-150217400	ZNF genes & repeats	HUVEC	blood vessel
31	chr7:150217000-150217600	Active TSS	Brain Anterior Caudate	brain
32	chr7:150217000-150217600	Active TSS	Colonic Mucosa	Colon
33	chr7:150217000-150217600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr7:150217000-150217600	ZNF genes & repeats	Esophagus	oesophagus
35	chr7:150217000-150217600	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr7:150217000-150217600	Active TSS	Stomach Smooth Muscle	stomach
37	chr7:150217000-150217600	Genic enhancers	Spleen	Spleen
38	chr7:150217000-150217800	ZNF genes & repeats	Lung	lung
39	chr7:150217000-150217800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
40	chr7:150217000-150217800	Active TSS	Rectal Smooth Muscle	rectum
41	chr7:150217000-150217800	Strong transcription	Thymus	Thymus
42	chr7:150217000-150218600	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr7:150217000-150218600	ZNF genes & repeats	GM12878-XiMat	blood
44	chr7:150217000-150218800	Active TSS	Psoas Muscle	Psoas
45	chr7:150217000-150219000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr7:150217000-150219200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
47	chr7:150217000-150219400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
48	chr7:150217000-150219400	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
49	chr7:150217200-150217400	ZNF genes & repeats	Fetal Stomach	stomach
50	chr7:150217200-150217600	Genic enhancers	Gastric	stomach

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